GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: SETX

id23064
symbolSETX
organismHomo sapiens
full namesenataxin
summaryThis gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
variant-disease

NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) AND Spinocerebellar ataxia autosomal recessive 1

NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) AND Spinocerebellar ataxia autosomal recessive 1

NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) AND Spinocerebellar ataxia autosomal recessive 1

NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) AND not specified

NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) AND not specified

... 648 more


Partner site online website capture on site-shot.com.